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List of works by Agatha Schluter

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

scientific article published on 18 December 2019

A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis.

scientific article published on 14 October 2008

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

scientific article published on 15 August 2020

ABCD2 alters peroxisome proliferator-activated receptor α signaling in vitro, but does not impair responses to fenofibrate therapy in a mouse model of diet-induced obesity

scientific article

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

scientific article published in December 2017

Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy.

scientific article

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

scientific article published on 01 October 2021

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

scientific article published on 01 October 2019

Clinical presentation and proteomic signature of patients with TANGO2 mutations

scientific article published on 13 August 2019

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

scientific article published on 05 October 2019

Deregulation of purine metabolism in Alzheimer's disease

scientific article published on 8 August 2014

Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation.

scientific article published on 24 February 2018

Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy

scientific article published on 17 November 2011

Functional genomics reveals dysregulation of cortical olfactory receptors in Parkinson disease: novel putative chemoreceptors in the human brain

scientific article

Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.

scientific article published on 24 July 2017

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

scientific article published on 11 February 2019

Neuroinflammatory signals in Alzheimer disease and APP/PS1 transgenic mice: correlations with plaques, tangles, and oligomeric species

scientific article published in April 2015

Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy

scientific article

Oxidative stress regulates the ubiquitin-proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy.

scientific article published in March 2013

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

scientific article published on 21 August 2019

Peroxisome proliferator-activated receptor alpha activates transcription of the brown fat uncoupling protein-1 gene. A link between regulation of the thermogenic and lipid oxidation pathways in the brown fat cell.

scientific article published in January 2001

Phytanic acid, but not pristanic acid, mediates the positive effects of phytol derivatives on brown adipocyte differentiation.

scientific article

Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion"

scientific article published on 01 December 2019

The chlorophyll-derived metabolite phytanic acid induces white adipocyte differentiation

scientific article published on 01 September 2002

The evolutionary origin of peroxisomes: an ER-peroxisome connection.

scientific article

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia

scientific article published on 25 November 2019

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